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Congenital cataract

D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
Maria J S Guerreiro, Lisa Putzar, Brigitte Röder
Recent neuroimaging studies have demonstrated that a brief period of congenital blindness induces long-lasting reorganization within the visual cortex of sight-recovery humans [1, 2]. However, the behavioral consequences of this cross-modal reorganization are not yet known. Here we investigated this question by examining the transfer of motion aftereffects across the visual and auditory modalities within six individuals who had been born blind due to dense bilateral cataracts and regained sight when they were treated at 5-24 months of age...
October 1, 2016: Current Biology: CB
W Ammari, S Harrath, S Mbarek, A Mahmoud, W Chebbi, R Messaoud, M Khairallah
OBJECTIVE: To study socio-demographic characteristics and main causes related to visual impairment (VI) as a function of age bracket and to analyze their trends over time in the district of Mahdia. METHOD: A retrospective review was performed on 1487 cases of visual impairment registered with the social authorities in Mahdia, between 1980 and 2013. The social, demographic, vision exam findings and causes were ascertained and analyzed in an SPSS database. Incidence rates of VI and blindness due to various causes were calculated based on the demographic data from the NSI to estimate the time trends using the general linear regression model and Spearman correlation...
October 13, 2016: Journal Français D'ophtalmologie
Zhale Rajavi, Hamideh Sabbaghi
Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes...
July 2016: Journal of Ophthalmic & Vision Research
Rachel L Bounds, Joseph Kuebler, Jill M Cholette, George M Alfieris, Sitaram M Emani, Carol A Wittlieb-Weber
A 2-month-old male with dysmorphic facies, neonatal thrombocytopenia, left congenital cataract, and long bone abnormalities became hypotensive with ST depression on induction of anesthesia for congenital cataract repair. Echocardiogram demonstrated decreased left ventricular function (ejection fraction 46%), mild mitral valve regurgitation (MR), and regional wall motion abnormalities. The left coronary artery could not be visualized. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery...
September 12, 2016: World Journal for Pediatric & Congenital Heart Surgery
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions...
December 2015: Journal of Pediatric Genetics
Hans Gjørup, Dorte Haubek, Pernille Jacobsen, John R Ostergaard
The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported in these papers have been systematized to obtain an overview of the reported findings and the terminology on dental morphology. All seven patients included in the present study showed deviations of crown morphology on incisors and/or molars...
September 12, 2016: American Journal of Medical Genetics. Part A
Hannah Happ, Eric Weh, Deborah Costakos, Linda M Reis, Elena V Semina
BACKGROUND: Congenital cataracts affect 3-6 per 10,000 live births and represent one of the leading causes of blindness in children. Congenital cataracts have a strong genetic component with high heterogeneity and variability. CASE PRESENTATION: Analysis of whole exome sequencing data in a patient affected with congenital cataracts identified a pathogenic deletion which was further defined by other techniques. A ~98-kb homozygous deletion of 6p24.3 involving the first three exons (two non-coding and one coding) of GCNT2 isoform A, the first exon (coding) of GCNT2 isoform B, and part of the intergenic region between GCNT2 and TFAP2A was identified in the patient and her brother while both parents were found to be heterozygous carriers of the deletion...
2016: BMC Medical Genetics
Li Wang, Yuhong Chen, Xueli Chen, Xinghuai Sun
CONTEXT: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. AIMS: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. SUBJECTS AND METHODS: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected...
July 2016: Indian Journal of Ophthalmology
V Akila Ramkumar, Sumita Agarkar, Bipasha Mukherjee
PURPOSE: To report the prevalence of amblyopia risk factors in children with congenital nasolacrimal duct obstruction. METHODS: A retrospective review of records of children with the diagnosis of congenital nasolacrimal duct obstruction (NLDO), who underwent probing from January 2009 to October 2011, was done. All of them underwent a complete ophthalmic evaluation including cycloplegic refraction and strabismus evaluation before probing. RESULTS: A total of 142 children were included in this study...
July 2016: Indian Journal of Ophthalmology
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Namik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, Albandary Al-Bakheet, Sonia Hasan, Maria Muccioli, Faten B Almutairi, Rawan Almass, Mazhor Aldosary, Dorota Monies, Osama M Mustafa, Banan Alyounes, Rosan Kenana, Jawaher Al-Zahrani, Eva Naim, Faisal S Binhumaid, Alya Qari, Fatema Almutairi, Brian Meyer, Timothy F Plageman, Mauro Pessia, Dilek Colak, Mohammed Al-Owain
BACKGROUND: Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and functional perspectives. Deficiency of these channels usually results in various human disorders. OBJECTIVES: To describe a novel autosomal recessive syndrome associated with KCNA4 deficiency leading to congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder...
August 31, 2016: Journal of Medical Genetics
Gaurav Kapoor, Sankalp Seth, T S Ahluwalia, S K Dhar
BACKGROUND: Comparing surgical outcomes of management of posterior polar cataract, a congenital cataract, which is difficult to manage surgically and has been associated with poor surgical outcomes. METHODS: 46 eyes of 38 patients with posterior polar cataract underwent phacoemulsification and PCIOL implantation. RESULTS: In a prospective analytical study, 46 eyes of 38 patients with posterior polar cataracts underwent surgery at a zonal hospital of the armed forces...
July 2016: Medical Journal, Armed Forces India
Rebecca F Neustein, Beau B Bruce, Allen D Beck
PURPOSE: To report and compare visual and glaucoma outcomes in primary congenital glaucoma (PCG) vs glaucoma following congenital cataract surgery (GFCS). DESIGN: Retrospective, observational, comparative case series. METHODS: Setting: Emory Eye Center, Atlanta, Georgia. STUDY POPULATION: Pediatric glaucoma patients (age 0-18 years) treated at Emory by 1 clinician with ≥2-year follow-up. Glaucoma was defined according to the 9th Consensus Report of the World Glaucoma Association...
October 2016: American Journal of Ophthalmology
Paolo Esposito Veneruso, Lucia Ziccardi, Giulia Magli, Vincenzo Parisi, Benedetto Falsini, Adriano Magli
PURPOSE: To assess whether the early light deprivation induced by congenital cataract may influence the cone-driven retinal function in humans. METHODS: Forty-one patients affected by congenital cataract (CC) who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity (BCVA) measurement; light-adapted full-field electroretinograms (ERG) and photopic negative responses (PhNR) were recorded to obtain a reliable measurement of the outer/inner retinal function and of the retinal ganglion cells' function respectively...
August 18, 2016: Acta Ophthalmologica
Glynis Frans, Leen Moens, Heidi Schaballie, Greet Wuyts, Adrian Liston, Koen Poesen, Ann Janssens, Gillian I Rice, Yanick J Crow, Isabelle Meyts, Xavier Bossuyt
We present a male patient with a clinical presentation of inflammatory bowel disease, dysmorphic features, bilateral congenital cataracts, and progressive B-cell immunodeficiency caused by homozygosity for the most N-terminal TRNT1 missense mutation described to date.
August 13, 2016: Journal of Allergy and Clinical Immunology
D D Zhang, J Z Du, J Topolewski, X M Wang
Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome...
2016: Genetics and Molecular Research: GMR
S Sheeladevi, J G Lawrenson, A R Fielder, C M Suttle
Childhood cataract is an avoidable cause of visual disability worldwide and is a priority for VISION 2020: The Right to Sight. There is a paucity of information about the burden of cataract in children and the aim of this review is to assess the global prevalence of childhood cataract. The methodology for the review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We performed a literature search for studies reporting estimates of prevalence or incidence of cataract among children (aged<18 years) at any global location using the Cochrane Library, Medline and Embase up to January 2015...
September 2016: Eye
P Gogate, D Parbhoo, P Ramson, R Budhoo, L Øverland, N Mkhize, K Naidoo, S Levine, A du Bryn, L Benjamin
No abstract text is available yet for this article.
August 12, 2016: Eye
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